Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894194
rs104894194
AIP
4 0.925 11 67483198 stop gained C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs10505476
rs10505476
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs1201299
rs1201299
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs142163070
rs142163070
1 8 142877100 missense variant T/C snv 2.0E-04 4.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs142287570
rs142287570
2 1.000 6 10874335 missense variant T/G snv 6.6E-04 4.9E-04 0.010 1.000 1 2019 2019
dbSNP: rs146462069
rs146462069
2 X 131278706 missense variant T/C;G snv 3.8E-05; 9.5E-03 0.010 < 0.001 1 2015 2015
dbSNP: rs2227999
rs2227999
XPC
1 3 14158408 missense variant C/T snv 4.2E-02 4.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2720574
rs2720574
1 8 17578682 intron variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs2855798
rs2855798
1 11 128863066 intron variant G/T snv 0.21 0.010 1.000 1 2014 2014
dbSNP: rs371918069
rs371918069
2 1.000 6 10874372 missense variant C/T snv 5.6E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs386834263
rs386834263
1 3 53673113 missense variant G/C snv 0.010 1.000 1 2017 2017
dbSNP: rs4648310
rs4648310
1 1 186671393 downstream gene variant T/C;G snv 0.010 1.000 1 2009 2009
dbSNP: rs6586714
rs6586714
2 1.000 8 18216433 intron variant A/G snv 0.84 0.010 1.000 1 2012 2012
dbSNP: rs763539313
rs763539313
1 12 6537702 missense variant A/G snv 2.0E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs774679649
rs774679649
CRP
1 1 159713878 missense variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs778826879
rs778826879
3 16 30121948 missense variant C/G;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs939481814
rs939481814
1 2 233767063 synonymous variant A/T snv 0.010 1.000 1 2009 2009
dbSNP: rs386352352
rs386352352
6 0.851 0.080 19 14097604 missense variant A/C snv 0.030 1.000 3 2015 2017
dbSNP: rs386352318
rs386352318
4 0.925 0.080 11 128911776 missense variant T/G snv 0.020 1.000 2 2012 2012
dbSNP: rs10808555
rs10808555
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs11255841
rs11255841
11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs121908874
rs121908874
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs1535989
rs1535989
4 0.925 0.080 13 105370372 intergenic variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs17503908
rs17503908
2 1.000 0.080 11 108344670 intron variant T/G snv 6.7E-02 0.010 1.000 1 2011 2011
dbSNP: rs2838958
rs2838958
3 1.000 0.080 21 45528653 intron variant G/A snv 0.45 0.010 1.000 1 2011 2011